Canonical Allele Identifier: CA237229160

Gene: KRT6A

Linked Data

• dbSNP Id: rs371399727
• gnomAD v2: 12-52882165-G-C
• gnomAD v4: 12-52488381-G-C
• MyVariant Identifiers: chr12:g.52882165G>C (hg19) ; chr12:g.52488381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488381G>C , CM000674.2:g.52488381G>C	GRCh38
NC_000012.11:g.52882165G>C , CM000674.1:g.52882165G>C	GRCh37
NC_000012.10:g.51168432G>C	NCBI36
NG_008298.1:g.10017C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1371C>G MANE Select	ENSP00000369317.3:p.Ala457=
ENST00000330722.6:c.1371C>G	ENSP00000369317.3:p.Ala457=
NM_005554.3:c.1371C>G	NP_005545.1:p.Ala457=
NM_005554.4:c.1371C>G MANE Select	NP_005545.1:p.Ala457=